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Wiener klinische Wochenschrift

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01.05.2013 | case report

Congenital contractural arachnodactyly (Beals-Hecht syndrome): a rare connective tissue disorder

verfasst von: Alexander Jurko Jr., MD, PhD, Jana Krsiakova, MD, Milan Minarik, MD, PhD, Ingrid Tonhajzerova, MD

Erschienen in: Wiener klinische Wochenschrift | Ausgabe 9-10/2013

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Summary

Congenital contractural arachnodactyly (CCA) or Beals–Hecht syndrome (BHS) presents a very rare connective tissue disorder characterized by narrow body habitus, crumpled ears, arachnodactyly, contractures, and scoliosis. In our case report, the physical examination revealed typical physical findings to determine the physical diagnosis of BHS in contrast to negative finding on DNA analysis. From clinical point-of-view, it is important to include a complex clinical approach in making the diagnosis.

Vorheriger Artikel Bronchogenic cyst of stomach: two cases report and review of the English literature

Nächster Artikel Researcher of the Month 

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Titel: Congenital contractural arachnodactyly (Beals-Hecht syndrome): a rare connective tissue disorder
verfasst von: Alexander Jurko Jr., MD, PhD
Jana Krsiakova, MD
Milan Minarik, MD, PhD
Ingrid Tonhajzerova, MD
Publikationsdatum: 01.05.2013
Verlag: Springer Vienna
Erschienen in: Wiener klinische Wochenschrift / Ausgabe 9-10/2013
Print ISSN: 0043-5325
Elektronische ISSN: 1613-7671
DOI: https://doi.org/10.1007/s00508-013-0358-7

Springer Medizin Österreich

Summary

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